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01000caa a22002652 4500 |
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NLM120056089 |
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DE-627 |
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20250203092940.0 |
| 007 |
tu |
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231222s2002 xx ||||| 00| ||eng c |
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2 |
|a pubmed25n0400.xml
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|a (DE-627)NLM120056089
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|a (NLM)12139950
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Jirapongsananuruk, Orathai
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a CYBB mutation analysis in X-linked chronic granulomatous disease
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| 264 |
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1 |
|c 2002
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 06.09.2002
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|a Date Revised 06.11.2019
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|a published: Print
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|a GENBANK: AF469757, AF469758, AF469759, AF469760, AF469761, AF469762, AF469763, AF469764, AF469765, AF469766, AF469767, AF469768, AF469769
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| 500 |
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|a Citation Status MEDLINE
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| 520 |
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|a Chronic granulomatous disease (CGD) results from mutations of phagocyte NADPH oxidase. Seventy percent are X-linked (X-)CGD with absent or defective gp91(phox) protein encoded by the CYBB gene. A subset of X-CGD patients demonstrates partial oxidase activity and/or varied levels of the gp91(phox) protein. Definitive genotypic diagnosis in these unusual patients requires mutation analysis. Typically, CYBB mutation analysis has relied on initial screening of cDNA by single-stranded conformation polymorphism analysis, followed by selective sequencing. We report a fluorescent, automated method for CYBB mutation analysis using genomic DNA that provides more rapid and reliable results. Moreover, the use of genomic DNA in this approach allows mutation detection in the mRNA coding region, promoter/enhancer region, and intronic sequences flanking splice junctions and does not require mRNA preparation. The PCR conditions were optimized for each exon, including those with A+T-rich regions. We analyzed DNA from two unusual X-CGD patients and established the genetic basis for their phenotype. We also sequenced 100 normal X chromosomes to establish wild-type consensus sequences and identify polymorphisms
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| 650 |
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4 |
|a Journal Article
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| 650 |
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7 |
|a DNA, Complementary
|2 NLM
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| 650 |
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7 |
|a Membrane Glycoproteins
|2 NLM
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| 650 |
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7 |
|a CYBB protein, human
|2 NLM
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| 650 |
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7 |
|a EC 1.6.3.-
|2 NLM
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| 650 |
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7 |
|a NADPH Oxidase 2
|2 NLM
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| 650 |
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7 |
|a EC 1.6.3.-
|2 NLM
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| 650 |
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7 |
|a NADPH Oxidases
|2 NLM
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| 650 |
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7 |
|a EC 1.6.3.-
|2 NLM
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| 700 |
1 |
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|a Niemela, Julie E
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Malech, Harry L
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Fleisher, Thomas A
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 104(2002), 1 vom: 02. Juli, Seite 73-6
|w (DE-627)NLM098196855
|x 1521-6616
|7 nnns
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| 773 |
1 |
8 |
|g volume:104
|g year:2002
|g number:1
|g day:02
|g month:07
|g pages:73-6
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| 912 |
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|a GBV_USEFLAG_A
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| 912 |
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|a SYSFLAG_A
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| 912 |
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|a GBV_NLM
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| 912 |
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|a GBV_ILN_11
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| 912 |
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|a GBV_ILN_24
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| 912 |
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|a GBV_ILN_350
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| 951 |
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|a AR
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| 952 |
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|d 104
|j 2002
|e 1
|b 02
|c 07
|h 73-6
|